Mutagenetix > Incidental Mutation

Incidental Mutation 'R9016:Rapsn'

685975

Institutional Source

Beutler Lab

Gene Symbol

Rapsn

Ensembl Gene

ENSMUSG00000002104

Gene Name

receptor-associated protein of the synapse

Synonyms

43kDa acetylcholine receptor-associated protein, Nraps, rapsyn, Raps

MMRRC Submission

068846-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9016 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90865965-90876074 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90867172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 158 (D158G)

Ref Sequence

ENSEMBL: ENSMUSP00000054150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050323] [ENSMUST00000111445] [ENSMUST00000111446]

AlphaFold

P12672

Predicted Effect

probably damaging
Transcript: ENSMUST00000050323
AA Change: D158G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054150
Gene: ENSMUSG00000002104
AA Change: D158G

Domain	Start	End	E-Value	Type
TPR	6	39	5.62e1	SMART
Blast:TPR	43	74	2e-10	BLAST
TPR	83	116	2.56e1	SMART
TPR	123	156	1.11e-2	SMART
TPR	163	196	8.29e0	SMART
TPR	206	239	1.24e0	SMART
Blast:TPR	246	279	1e-14	BLAST
TPR	286	319	2.07e1	SMART
RING	363	402	2.67e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111445
AA Change: D158G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107072
Gene: ENSMUSG00000002104
AA Change: D158G

Domain	Start	End	E-Value	Type
TPR	6	39	5.62e1	SMART
Blast:TPR	43	74	1e-10	BLAST
TPR	83	116	2.56e1	SMART
TPR	123	156	1.11e-2	SMART
TPR	163	196	8.29e0	SMART
TPR	206	239	1.24e0	SMART
RING	304	343	2.67e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111446
AA Change: D158G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107073
Gene: ENSMUSG00000002104
AA Change: D158G

Domain	Start	End	E-Value	Type
TPR	6	39	5.62e1	SMART
Blast:TPR	43	74	1e-10	BLAST
TPR	83	116	2.56e1	SMART
TPR	123	156	1.11e-2	SMART
Blast:TPR	193	226	9e-15	BLAST
TPR	233	266	2.07e1	SMART
RING	310	349	2.67e-5	SMART

Meta Mutation Damage Score

0.5703

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this gene may play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit absence of acetylcholine receptor clusters at end plate band of neuromuscular synapses, muscle weakness, and respiratory distress leading to lethality within hours of birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	C	A	18: 74,932,154 (GRCm39)	S264R	probably damaging	Het
Agap1	T	C	1: 89,694,188 (GRCm39)		probably null	Het
Amer2	G	C	14: 60,617,376 (GRCm39)	D524H	probably damaging	Het
Ank1	G	A	8: 23,606,264 (GRCm39)	G1219S	probably null	Het
Apob	C	T	12: 8,035,408 (GRCm39)		silent	Het
Atg2a	G	C	19: 6,300,111 (GRCm39)	A640P	probably damaging	Het
AW209491	G	A	13: 14,812,193 (GRCm39)	V349M	probably damaging	Het
Bmpr2	C	T	1: 59,854,460 (GRCm39)	T103I	probably damaging	Het
Btaf1	A	C	19: 36,971,705 (GRCm39)	E1231D	probably benign	Het
Btbd7	T	C	12: 102,751,417 (GRCm39)	R1116G	probably damaging	Het
Catsperg1	A	T	7: 28,891,162 (GRCm39)	M627K	probably benign	Het
Cdk7	G	A	13: 100,854,126 (GRCm39)	T121I	probably benign	Het
Csmd3	T	A	15: 47,522,438 (GRCm39)	T1833S		Het
Dapk3	A	T	10: 81,028,266 (GRCm39)	R279W	probably damaging	Het
Dennd2b	A	C	7: 109,139,642 (GRCm39)	D645E	possibly damaging	Het
Dnah9	T	C	11: 65,998,856 (GRCm39)	E1064G	probably damaging	Het
Dner	T	C	1: 84,673,226 (GRCm39)	E75G	probably benign	Het
Dnmt1	T	C	9: 20,847,855 (GRCm39)	E229G	possibly damaging	Het
Fam171a1	G	A	2: 3,227,434 (GRCm39)	A856T	probably benign	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fen1	A	T	19: 10,178,306 (GRCm39)	V46D	probably damaging	Het
Ffar3	T	C	7: 30,554,454 (GRCm39)	R289G	probably damaging	Het
Fhod3	G	A	18: 25,243,136 (GRCm39)	E1165K	possibly damaging	Het
Fras1	A	T	5: 96,783,923 (GRCm39)	H809L	probably damaging	Het
Gbp7	A	T	3: 142,249,870 (GRCm39)	E447V	probably benign	Het
Gja8	T	C	3: 96,827,521 (GRCm39)	D47G	probably damaging	Het
Gm5795	A	G	14: 14,883,574 (GRCm39)	K144E	probably benign	Het
Gm7298	A	C	6: 121,758,800 (GRCm39)	Q1139H	possibly damaging	Het
Gpa33	A	T	1: 165,992,730 (GRCm39)	Y281F	probably damaging	Het
H2-M10.5	G	A	17: 37,084,226 (GRCm39)	E63K	possibly damaging	Het
Hgf	T	C	5: 16,823,956 (GRCm39)	W718R	probably damaging	Het
Ifna5	C	G	4: 88,754,046 (GRCm39)	D95E	probably benign	Het
Ifnar2	T	C	16: 91,201,073 (GRCm39)	L438P	possibly damaging	Het
Ints1	T	C	5: 139,744,326 (GRCm39)	T1479A	probably benign	Het
Kif1a	C	T	1: 92,953,395 (GRCm39)	R1263H	probably damaging	Het
Ltbp2	T	C	12: 84,856,467 (GRCm39)	T686A	probably benign	Het
Med12l	A	T	3: 59,163,294 (GRCm39)	E1307V	probably damaging	Het
Mtcl1	T	A	17: 66,651,062 (GRCm39)	T1468S	probably damaging	Het
Myo9a	C	T	9: 59,775,427 (GRCm39)	Q1013*	probably null	Het
Nckap5	T	C	1: 126,623,491 (GRCm39)	M1V	probably null	Het
Nos3	G	T	5: 24,588,639 (GRCm39)	V1122F	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Odad1	T	G	7: 45,585,988 (GRCm39)	C128W	probably damaging	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Or52n4	A	T	7: 104,293,828 (GRCm39)	C250*	probably null	Het
Oscar	A	G	7: 3,619,072 (GRCm39)	V2A	probably benign	Het
P2rx6	T	A	16: 17,385,304 (GRCm39)	H132Q	possibly damaging	Het
Pakap	T	C	4: 57,637,857 (GRCm39)	C12R	unknown	Het
Pde6b	T	A	5: 108,536,592 (GRCm39)	M96K	possibly damaging	Het
Polq	T	A	16: 36,843,159 (GRCm39)	L231Q	probably damaging	Het
Pramel23	T	C	4: 143,423,899 (GRCm39)	I297V	possibly damaging	Het
Prrc2a	G	A	17: 35,378,844 (GRCm39)	T399I	unknown	Het
Rcor1	T	A	12: 111,047,933 (GRCm39)		probably benign	Het
Sema4d	G	T	13: 51,867,794 (GRCm39)	P186T	probably damaging	Het
Skic2	A	C	17: 35,063,640 (GRCm39)	L601R	probably damaging	Het
Slc4a7	G	A	14: 14,773,241 (GRCm38)	R737Q	probably damaging	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Sox15	T	G	11: 69,546,529 (GRCm39)	Y111D	probably damaging	Het
Spen	C	T	4: 141,200,938 (GRCm39)	C2563Y	probably damaging	Het
Taf8	A	T	17: 47,807,527 (GRCm39)	D153E	probably damaging	Het
Tet3	G	A	6: 83,345,253 (GRCm39)	A1728V	probably damaging	Het
Tmem232	A	T	17: 65,737,778 (GRCm39)	D427E	probably benign	Het
Tmem53	T	C	4: 117,125,451 (GRCm39)	I188T	probably benign	Het
Tnc	T	G	4: 63,935,331 (GRCm39)	D535A	probably benign	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Tnik	G	A	3: 28,692,544 (GRCm39)	G867R	probably damaging	Het
Uba3	A	T	6: 97,162,694 (GRCm39)	C367*	probably null	Het
Vmn1r235	G	T	17: 21,481,969 (GRCm39)	S98I	possibly damaging	Het
Vmn2r15	T	C	5: 109,442,109 (GRCm39)	E108G	probably benign	Het
Xrra1	T	A	7: 99,525,462 (GRCm39)	I127N	probably benign	Het
Zc3h18	G	A	8: 123,129,963 (GRCm39)	R447Q	unknown	Het
Zcwpw1	C	A	5: 137,798,340 (GRCm39)	P179Q	probably damaging	Het
Zfp526	C	T	7: 24,925,264 (GRCm39)	H508Y	probably damaging	Het
Zfp583	T	C	7: 6,320,404 (GRCm39)	K203E	probably benign	Het
Zfp979	A	G	4: 147,697,504 (GRCm39)	C402R	possibly damaging	Het
Zxdc	A	G	6: 90,359,254 (GRCm39)	T629A	probably damaging	Het

Other mutations in Rapsn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Rapsn	APN	2	90,866,205 (GRCm39)	missense	probably damaging	1.00
IGL01386:Rapsn	APN	2	90,867,144 (GRCm39)	missense	probably damaging	1.00
IGL01517:Rapsn	APN	2	90,866,963 (GRCm39)	missense	probably damaging	1.00
IGL01707:Rapsn	APN	2	90,873,585 (GRCm39)	missense	probably benign	0.03
IGL02322:Rapsn	APN	2	90,872,251 (GRCm39)	missense	possibly damaging	0.80
IGL02800:Rapsn	APN	2	90,873,584 (GRCm39)	missense	probably benign
hermitage	UTSW	2	90,867,172 (GRCm39)	missense	probably damaging	1.00
rasputin	UTSW	2	90,866,269 (GRCm39)	missense	probably damaging	1.00
tsarina	UTSW	2	90,875,859 (GRCm39)	missense	probably damaging	1.00
R0744:Rapsn	UTSW	2	90,867,153 (GRCm39)	missense	probably damaging	0.99
R0833:Rapsn	UTSW	2	90,867,153 (GRCm39)	missense	probably damaging	0.99
R0836:Rapsn	UTSW	2	90,867,153 (GRCm39)	missense	probably damaging	0.99
R1224:Rapsn	UTSW	2	90,873,543 (GRCm39)	missense	probably damaging	1.00
R1294:Rapsn	UTSW	2	90,867,120 (GRCm39)	nonsense	probably null
R1619:Rapsn	UTSW	2	90,873,504 (GRCm39)	missense	possibly damaging	0.84
R2891:Rapsn	UTSW	2	90,867,169 (GRCm39)	missense	probably damaging	0.98
R2892:Rapsn	UTSW	2	90,867,169 (GRCm39)	missense	probably damaging	0.98
R2893:Rapsn	UTSW	2	90,867,169 (GRCm39)	missense	probably damaging	0.98
R4135:Rapsn	UTSW	2	90,867,162 (GRCm39)	missense	probably damaging	0.99
R4515:Rapsn	UTSW	2	90,873,557 (GRCm39)	missense	possibly damaging	0.91
R5689:Rapsn	UTSW	2	90,866,269 (GRCm39)	missense	probably damaging	1.00
R5860:Rapsn	UTSW	2	90,875,859 (GRCm39)	missense	probably damaging	1.00
R5953:Rapsn	UTSW	2	90,872,308 (GRCm39)	missense	probably benign	0.04
R6495:Rapsn	UTSW	2	90,866,973 (GRCm39)	missense	probably damaging	1.00
R7644:Rapsn	UTSW	2	90,872,299 (GRCm39)	missense	possibly damaging	0.80
R7775:Rapsn	UTSW	2	90,875,293 (GRCm39)	missense	probably benign	0.02
R7778:Rapsn	UTSW	2	90,875,293 (GRCm39)	missense	probably benign	0.02
R7896:Rapsn	UTSW	2	90,875,300 (GRCm39)	missense	probably benign	0.06
R9118:Rapsn	UTSW	2	90,875,378 (GRCm39)	missense	probably damaging	1.00
R9643:Rapsn	UTSW	2	90,872,268 (GRCm39)	missense	probably damaging	1.00
R9746:Rapsn	UTSW	2	90,875,823 (GRCm39)	missense	probably damaging	1.00
R9748:Rapsn	UTSW	2	90,875,823 (GRCm39)	missense	probably damaging	1.00
X0064:Rapsn	UTSW	2	90,873,348 (GRCm39)	missense	probably benign	0.14
Z1176:Rapsn	UTSW	2	90,866,943 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- CATCTCCTACTGCAAGACCTG -3'
(R):5'- TCCAATTGGCTAAGGTTGATGG -3'

Sequencing Primer
(F):5'- AAGACCTGCCTCGGCCTG -3'
(R):5'- GGTTGATGGCATTGTCTCAAAAGAAC -3'

Posted On

2021-10-11